Why gene chips?

Currently available molecular diagnostic techniques only permit a gene-by-gene approach to testing. This makes the process of finding the disease-causing mutation and obtaining a diagnosis both slow and expensive. The result is that many patients across the world do not have a precise genetic diagnosis for their condition.

In recent years, microarray or "gene chip" technology has made huge advances, and applying this technology to neuromuscular diseases will enable all relevant segments of a patient's DNA to be tested in one shot, thus enabling faster diagnosis. These advances in technology are also reducing the cost of genetic testing, which in future will make genetic diagnosis accessible to a far greater number of patients.